EPRS1 Gene Summary [Human]
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | EPRS1 |
| Official Name | glutamyl-prolyl-tRNA synthetase 1 [Source:HGNC Symbol;Acc:HGNC:3418] |
| Ensembl ID | ENSG00000136628 |
| Bio databases IDs | |
| Aliases | glutamyl-prolyl-tRNA synthetase 1, glutamate tRNA ligase, proline tRNA ligase |
| Synonyms | 2410081F06Rik, 3010002K18Rik, BIFUNCTIONAL TRNA SYNTHETASE, C79379, EARS, EPRS, GLUPRORS, glutamyl-prolyl-tRNA synthetase 1, HLD15, LOC100504962, LOC108351325, PARS, PIG32, prolyl-tRNA synthetase 1, QARS, QPRS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EPRS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- HGTP_anticodon
- prolyl-tRNA synthetase, family I
- protein repeat
- C-terminal, alpha helical domain of the Glutathione S-transferase family
- enzyme
- identical protein binding
- glutamate-tRNA ligase
- WHEP-TRS domain
- Anticodon binding domain
- zinc ion binding
- tRNA synthetases class I (E and Q), catalytic domain
- glutamine-tRNA ligase
- WHEP-TRS
- class_II_aaRS-like_core
- glutamyl-tRNA synthetase, archaeal and eukaryotic family
- S15_NS1_EPRS_RNA-bind
- enzyme binding
- glutaminyl-tRNA synthetase
- protein binding
- Prolyl-tRNA synthetase, C-terminal
- RNA binding
- proline-tRNA ligase
- tRNA synthetases class I (E and Q), anti-codon binding domain
- tRNA synthetase class II core domain (G, H, P, S and T)
- protein homodimerization
- nucleotidyl transferase superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cancer
- epithelial cancer
- hypomyelinating leukodystrophy type 15
- dilated cardiomyopathy
- obesity
- Alzheimer disease
- hepatocellular carcinoma
- hereditary disorder
- global developmental delay
- heart failure
role in cell
- migration
- expression in
- deposition in
- proliferation
- phosphorylation in
- production in
- cellular infiltration by
- survival
- response by
- activation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Nucleus
- Plasma Membrane
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPRS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to insulin stimulus
- tRNA aminoacylation for protein translation
- cellular response to interferon-gamma
- glutamyl-tRNA aminoacylation
- negative regulation of translation
- prolyl-tRNA aminoacylation
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- cytosol
- aminoacyl-tRNA synthetase multienzyme complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- zinc ion binding
- identical protein binding
- protein binding
- protein homodimerization activity
- GTPase binding
- proline-tRNA ligase activity
- RNA stem-loop binding
- glutamate-tRNA ligase activity